Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
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DOI：
10.1038/ncomms8870
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发表时间：
2015-07-28
影响因子：
16.6
通讯作者：
Sasaki H
中科院分区：
文献类型：
--
作者：
Thijssen PE;Ito Y;Grillo G;Wang J;Velasco G;Nitta H;Unoki M;Yoshihara M;Suyama M;Sun Y;Lemmers RJ;de Greef JC;Gennery A;Picco P;Kloeckener-Gruissem B;Güngör T;Reisli I;Picard C;Kebaili K;Roquelaure B;Iwai T;Kondo I;Kubota T;van Ostaijen-Ten Dam MM;van Tol MJ;Weemaes C;Francastel C;van der Maarel SM;Sasaki H
危及生命的免疫缺陷、着丝粒不稳定和面部异常 (ICF) 综合征是一种遗传异质性常染色体隐性遗传疾病。 20% 的患者无法用已知 ICF 基因 DNA 甲基转移酶 3B 或锌指和包含 24 的 BTB 结构域的突变来解释。在此，我们报告了 10 例无法解释的 ICF 病例中与细胞分裂周期相关的 7 和解旋酶、淋巴特异性基因的突变。我们的数据强调了 ICF 综合征的遗传异质性；然而，他们提供的证据表明所有基因都在导致 ICF 表型的共同或汇聚途径中发挥作用。 免疫缺陷-着丝粒不稳定-面部异常综合征是一种由 DNMT3B 和 ZBTB24 突变引起的危及生命的常染色体隐性遗传疾病。这里 Thijssen 等人。在先前无法解释的病例中识别CDCA7和HELLS的突变。
The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype. Immunodeficiency-centromeric instability-facial anomalies syndrome is a life threatening autosomal recessive disorder caused by mutations in DNMT3B and ZBTB24. Here Thijssen et al. identify mutations in CDCA7 and HELLS in previously unexplained cases.